ArticleAnnals of pediatric endocrinology & metabolism2018
De novo a novel variant of CaSR gene in a neonate with congenital hypoparathyroidism.
Article in Annals of pediatric endocrinology & metabolism, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed, 10 citations in OpenAlex.
- Molecular regulation of calcium-sensing receptor (CaSR)-mediated signaling.Chronic diseases and translational medicine · 2024Review
- Autosomal Dominant Hypocalcemia Type 1 and Neonatal Focal Seizures.Children (Basel, Switzerland) · 2023Article
- Simultaneous Kidney and Parathyroid Transplantation in the Management of Genetic Hypoparathyroidism in a Child.Transplantation direct · 2022Article
- A cell function study on calcium regulation of a novel calcium-sensing receptor mutation (p.Tyr825Phe).Annals of pediatric endocrinology & metabolism · 2021Article
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
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Abstract
Autosomal-dominant hypocalcemia with hypercalciuria (ADHH) is a genetic disease characterized by hypoparathyroidism with hypercalciuria. Most patients with ADHH have calcium-sensing receptor (CaSR) gene mutations. The CaSR gene controls parathyroid secretions, and mutations in this gene can be detected via changes in serum calcium level. The activating mutation of the CaSR gene results in familial or sporadic ADHH. Most activating mutations of the CaSR gene are reportedly de novo missense mutations. This is the first case report of a novel activating variant of the CaSR gene in a neonate with congenital hypoparathyroidism with hypomagnesemia and hypercalciuria. We also report the 3-month follow-up management of the patient.
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